ClinVar includes an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice internet site are a relatively typical cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms made to forecast the result of sequence adjustments on RNA splicing recommend this variant may well produce or reinforce a splice website. In summary, the available proof is presently insufficient to find out the position of this variant in disease. Consequently, it's been categorised to be a Variant of Uncertain Importance. (a lot less)
This date signifies the last time this VCV report was current. The update may very well be because of an update to one of several bundled submitted documents (SCVs), or because of an update that ClinVar created for the variant for example incorporating HGVS expressions or maybe a rs selection.
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The quantity of variants in ClinVar for this gene, like more compact variants inside the gene and bigger CNVs that overlap or thoroughly incorporate the gene.
The impact in the variant on RNA or protein perform, based on experimental evidence from submitters.
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